ClinGen Allele Registry
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Canonical Allele Identifier:
CA228632920
Gene:
Linked Data - Predicted Effect Evidence
MyVariant.info:
GRCh38
chr11:g.113482039G>A
GRCh37
chr11:g.113352761G>A
Linked Data - Sequence & Population
gnomAD v3:
11:113482039 G / A
gnomAD v4:
chr11-113482039-G-A
Linked Data - NCBI & NCI
dbSNP:
10891556
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.113482039G>A , CM000673.2:g.113482039G>A
GRCh38
NC_000011.9:g.113352761G>A , CM000673.1:g.113352761G>A
GRCh37
NC_000011.8:g.112857971G>A
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
XR_948024.2:n.379-2466C>T
Search 100 bp 5'
Search 100 bp 3'